ExoMAX & GenoMAX: Clinical Whole Exome & Whole Genome Sequencing Test

Overview

The frequency of autosomal recessive, autosomal dominant and X-linked disorders in Middle-Eastern and Asian populations is much higher than in Western countries. This is due to the higher incidence of inbreeding and consanguineous marriages.

Autosomal Recessive
Autosomal Dominant
X-Linked

Higher occurance in Middle-Eastern and Asian populations than in Western countries due to inbreeding and consanguineous marriages

Many of  these disorders have an underlying genetic basis that can be diagnosed using Clinical Next Generation Sequencing. Sengenics’s GenoMAX and ExoMAX services are the FIRST in the world that integrate allele and genotype frequency information from the GalaxC database of Middle-Eastern and Asian disease mutations.

Who should get tested?

  • Child with a genetic disorder
  • Couples who are first cousins or close relatives
  • Couples who already have a child with a genetic disorder
  • Women who have a baby after the age of 35
  • Women who have had a miscarriages
  • Individuals with a family history of a genetic disorder

What is the advantages and unique points of ExoMAX and GenoMAX?

  • Full bioinformatics analysis to include identification of variants associated with primary reason for referral and incidental findings reported as an option
  • Cost includes verification of one pathogenic mutation in the index case and both parents in both forward and reverse directions by Sanger sequencing
  • Free access to GalaxC; Sengenics’s proprietary allele and genotype frequency database to aid in clinical interpretation of sequencing data
  • Clinical diagnosis report signed by Sengenics Clinical Geneticist Panel from the USA, UK or Europe

 

What is GalaxC?

For more information on GalaxC database, click here